Gene Gene information from NCBI Gene database.
Entrez ID 55255
Gene name WD repeat domain 41
Gene symbol WDR41
Synonyms (NCBI Gene)
MSTP048
Chromosome 5
Chromosome location 5q13.3-q14.1
miRNA miRNA information provided by mirtarbase database.
218
miRTarBase ID miRNA Experiments Reference
MIRT714579 hsa-miR-3185 HITS-CLIP 19536157
MIRT714580 hsa-miR-1253 HITS-CLIP 19536157
MIRT714577 hsa-miR-3194-5p HITS-CLIP 19536157
MIRT714578 hsa-miR-1202 HITS-CLIP 19536157
MIRT714576 hsa-miR-3972 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 27103069
GO:0005096 Function GTPase activator activity IMP 32303654
GO:0005515 Function Protein binding IPI 28195531, 32303654
GO:0005737 Component Cytoplasm IDA 27193190
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617502 25601 ENSG00000164253
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HAD4
Protein name WD repeat-containing protein 41
Protein function Non-catalytic component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy (PubMed:27103069, PubMed:27193190, PubMed:27617292, PubMed:28195531). The C9orf72-SMCR8 complex pr
PDB 6LT0 , 6V4U , 7MGE , 8W3V
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 33 70 WD domain, G-beta repeat Repeat
PF00400 WD40 74 119 WD domain, G-beta repeat Repeat
PF00400 WD40 315 350 WD domain, G-beta repeat Repeat
Sequence
MLRWLIGGGREPQGLAEKSPLQTIGEEQTQNPYTELLVLKAHHDIVRFLVQLDDYRFASA
GDDGIVVVWN
AQTGEKLLELNGHTQKITAIITFPSLESCEEKNQLILTASADRTVIVWDG
DTTRQVQRISCFQSTVKCLTVLQRLDVWLSGGNDLCVWNRKLDLLCKTSHLSDTGISALV
EIPKNCVVAAVGKELIIFRLVAPTEGSLEWDILEVKRLLDHQDNILSLINVNDLSFVTGS
HVGELIIWDALDWTMQAYERNFWDPSPQLDTQQEIKLCQKSNDISIHHFTCDEENVFAAV
GRGLYVYSLQMKRVIACQKTAHDSNVLHVARLPNRQLISCSEDGSVRIWELREKQQLAAE
PVPTGFFNMWGFGRVSKQASQPVKKQQENATSCSLELIGDLIGHSSSVEMFLYFEDHGLV
TCSADHLIILWKNGERESGLRSLRLFQKLEENGDLYLAV
Sequence length 459
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Autophagy - animal
Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Thyroid cancer, nonmedullary, 1 Uncertain significance rs139122408 RCV005930830
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Disease Associate 37337823
Myopia Associate 19324860